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Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.
Genes (Basel)
January 2025
Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.
Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.
View Article and Find Full Text PDFNon-invasive ML methods for diagnosis of congenital heart disease associated with pulmonary arterial hypertension.
Front Physiol
January 2025
Country School of Information Science and Engineering, Yunnan University, Kunming, China.
Objective: Congenital heart disease with pulmonary arterial hypertension (CHD-PAH), caused by CHD, is associated with high clinical mortality. Hence, timely diagnosis is imperative for treatment.
Approach: Two non-invasive diagnosis algorithms of CHD-PAH were put forward in this review, which were direct three-divided and two-stage classification models.
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
Am J Hum Genet
December 2024
Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A(∗)STAR, Singapore, Singapore; Laboratory of Human Genetics & Therapeutics, BESE, KAUST, Thuwal, Saudi Arabia; Department of Physiology, Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. Electronic address:
Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.
View Article and Find Full Text PDF[Long-term postoperative outcomes after surgical correction of congenital subaortic stenosis].
Khirurgiia (Mosk)
December 2024
Penza State University, Penza, Russia.
Objective: To analyze the results of surgical treatment of discrete subaortic stenosis and identify the main factors of left ventricular outflow tract (LVOT) restenosis in long-term postoperative period.
Material And Methods: There were 87 surgical interventions in 63 patients with congenital subaortic stenosis between 2008 and 2023. Mean preoperative peak systolic LVOT pressure gradient was 72 mmHg (50-110 mmHg).
Phenotypic clustering of repaired Tetralogy of Fallot using unsupervised machine learning.
Int J Cardiol Congenit Heart Dis
September 2024
The Blalock-Taussig-Thomas Pediatric and Congenital Heart Center, Department of Pediatrics, Johns Hopkins School of Medicine, Johns Hopkins University, 600 N. Wolfe Street, 1389 Blalock, Baltimore, 21287, MD, USA.
Objective: Repaired Tetralogy of Fallot (rTOF), a complex congenital heart disease, exhibits substantial clinical heterogeneity. Accurate prediction of disease progression and tailored patient management remain elusive. We aimed to categorize rTOF patients into distinct phenotypes based on clinical variables and variables obtained from cardiac magnetic resonance (CMR) imaging.
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